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Clinical and genetic features of the affected child. (A) Clinical observations. (B) Family pedigree of the present family. (C) Sanger sequencing results. “Y” represents paternal c.1439C > T, and “R” represents maternal c.239A > G. (D) The identified ASNS variants in the present report, along with the 38 pathogenic or probably pathogenic exonic variants described in ClinVar.
